Variant report

Variant	rs8124555
Chromosome Location	chr20:13494001-13494002
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11698691	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12329562	0.82[ASN][1000 genomes]
rs28444692	0.83[EUR][1000 genomes]
rs2876356	0.81[EUR][1000 genomes]
rs3789343	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3789344	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3789345	0.81[EUR][1000 genomes]
rs3789350	0.80[EUR][1000 genomes]
rs4411781	0.81[EUR][1000 genomes]
rs6033720	0.81[EUR][1000 genomes]
rs6033723	0.81[EUR][1000 genomes]
rs6033727	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6033731	0.81[EUR][1000 genomes]
rs6033733	0.81[EUR][1000 genomes]
rs6033735	0.81[EUR][1000 genomes]
rs6033736	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6033755	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6042167	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6042176	0.81[EUR][1000 genomes]
rs6042179	0.81[EUR][1000 genomes]
rs6042181	0.81[EUR][1000 genomes]
rs6042184	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6042212	0.80[EUR][1000 genomes]
rs6105115	0.81[EUR][1000 genomes]
rs6105116	0.81[EUR][1000 genomes]
rs6109906	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6109913	0.81[EUR][1000 genomes]
rs6109920	0.81[AMR][1000 genomes]
rs6131478	0.81[ASN][1000 genomes]
rs6131480	0.81[ASN][1000 genomes]
rs6131481	0.81[ASN][1000 genomes]
rs6131482	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6134885	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6134890	0.81[EUR][1000 genomes]
rs6134892	0.81[ASN][1000 genomes]
rs6134894	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6134896	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6134897	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6134899	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6134904	0.84[EUR][1000 genomes]
rs6134909	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6134913	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73080067	0.81[EUR][1000 genomes]
rs73086039	0.80[EUR][1000 genomes]
rs8123095	0.81[AMR][1000 genomes]
rs8126063	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061303	chr20:13395546-13810990	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv585435	chr20:13410638-13582476	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv916202	chr20:13421724-14043615	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1059817	chr20:13422602-13807968	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv458871	chr20:13447896-13573415	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv585436	chr20:13447896-13573415	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1066810	chr20:13451869-14432454	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8124555	TASP1	cis	lung	GTEx

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13463800-13505400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr20:13470200-13505800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr20:13473400-13505800	Weak transcription	HSMM	muscle
4	chr20:13474400-13496800	Weak transcription	Pancreas	Pancrea
5	chr20:13478200-13503800	Weak transcription	Gastric	stomach
6	chr20:13483200-13509200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr20:13484000-13495800	Weak transcription	Thymus	Thymus
8	chr20:13484000-13499000	Weak transcription	Aorta	Aorta
9	chr20:13484000-13502600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr20:13484000-13502600	Weak transcription	Primary T cells from cord blood	blood
11	chr20:13484000-13502600	Weak transcription	Fetal Stomach	stomach
12	chr20:13484200-13496800	Weak transcription	Left Ventricle	heart
13	chr20:13485000-13502600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr20:13485000-13543600	Weak transcription	Small Intestine	intestine
15	chr20:13485800-13497400	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr20:13486200-13502600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr20:13487600-13515000	Weak transcription	Brain Germinal Matrix	brain
18	chr20:13488200-13502600	Weak transcription	Lung	lung
19	chr20:13488200-13502600	Weak transcription	Ovary	ovary
20	chr20:13488600-13496800	Weak transcription	NHEK	skin
21	chr20:13489000-13502600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr20:13489000-13502600	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr20:13489000-13502600	Weak transcription	Fetal Intestine Large	intestine
24	chr20:13489200-13514600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr20:13489600-13497600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr20:13489600-13499000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr20:13490400-13502800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr20:13490400-13509600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr20:13490800-13502800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr20:13491200-13495800	Weak transcription	Fetal Lung	lung
31	chr20:13491800-13495800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr20:13491800-13503400	Weak transcription	Liver	Liver
33	chr20:13492000-13495000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr20:13492000-13495000	Weak transcription	HepG2	liver
35	chr20:13492200-13499600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr20:13492200-13503800	Weak transcription	Right Ventricle	heart
37	chr20:13492200-13505600	Weak transcription	Spleen	Spleen
38	chr20:13492200-13567000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr20:13492600-13502600	Weak transcription	Brain Hippocampus Middle	brain
40	chr20:13492800-13496800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr20:13493600-13494600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr20:13493600-13495200	Strong transcription	Primary B cells from peripheral blood	blood
43	chr20:13493600-13496400	ZNF genes & repeats	Dnd41	blood
44	chr20:13493600-13502800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr20:13493600-13505400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr20:13493600-13507600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr20:13493600-13510800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr20:13493600-13519200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr20:13493800-13494400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr20:13493800-13494400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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